Author(s) : P Poblete-Gutiérrez, T Wiederholt, HF Merk, J Frank , Department of Dermatology, University Hospital Maastricht, The Netherlands, Department of Dermatology, University Hospital of the RWTH Aachen, Germany, Porphyria Center, University Hospital of the RWTH Aachen, Germany.
Summary : The porphyrias comprise a clinically and genetically heterogeneous group of diseases mostly arising from a genetically determined dysfunction of specific enzymes along the pathway of heme biosynthesis. Based on the occurrence or absence of cutaneous symptoms and life-threatening acute neurological attacks, the different types of porphyrias can either be classified into cutaneous and non-cutaneous forms or acute and non-acute forms. Establishing an accurate diagnosis might be difficult for two reasons: i) the porphyrias can manifest with a broad but unspecific spectrum of clinical symptoms mimicking several other disorders, and ii) biochemical examination of urine, feces, and blood can reveal overlapping findings. Fortunately, however, the advances in the fields of molecular genetics during recent years have provided us with the possibility of overcoming these diagnostic pitfalls. Therefore, in controversial cases the correct diagnosis can finally be made using molecular biological techniques. Due to the various facets of the porphyrias, diagnosis and treatment should always imply a close interdisciplinary collaboration to counsel and help patients and their families most efficiently.
Figure 2A) Blister, miliae, and
hyperpigmented scars on the dorsum of the left hand of a patient
with porphyria cutanea tarda. B) Lateral view of the same
hand,showing a blister, erosions, superficial crusts, and
hyperpigmented scars. C) Porphyria cutanea tarda. Detailed
view of the dorsal aspect of digitus II and III of a patient:
Intact, partially, hemorrhagic blisters, erosions, crusts, and
scarring. D) Porphyria cutanea tarda with chronic course:
Erosion and sclerodermiform plaques in the neck of a patient.
Figure 3A) Erythropoietic protoporphyria.
Acute photosensitivity reaction with unsharply demarcated erythema
and edema on both hands and the wrists of a 10-year-old boy.
B) Erythropoietic protoporphyria. Erythema, postinflammatory
hyperpigmentation, and erosions in the face of a 9-year-old girl.
Note the subtle scarring on the nose.
Figure 4A) Congenital erythropoietic
porphyria. Extensive excoriation, ulceration, and scarring in the
face with severe cartilage destruction on the nose resulting in
mutilation. Note the partial absence of eyebrows and the complete
loss of eye-lashes as well as the hypertrichosis on the right
shoulder. B) Congenital erythropoietic porphyria.
Erythrodontia due to massive protoporphyrin deposition in the
teeth.
Figure 5 Variegate porphyria. Intact blister,
erosions, crusts, miliae, and hyperpigmented scarring on the back
of the hands. Clinically, the cutaneous lesions can not be
distinguished from those encountered in porphyria cutanea
tarda.
Figure 6 Algorithm for the diagnosis of the
porphyrias based on the prevailing clinical symptoms.
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